A novel splice site CUL3 variant in a patient with neurodevelopmental delay
Vincent, Krista M., Bourque, Danielle K.
Published in Brain & development (Tokyo. 1979) (01.04.2023)
Published in Brain & development (Tokyo. 1979) (01.04.2023)
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Journal Article
Characterization of the vaginal microbiota of healthy Canadian women through the menstrual cycle
Chaban, Bonnie, Links, Matthew G, Jayaprakash, Teenus Paramel, Wagner, Emily C, Bourque, Danielle K, Lohn, Zoe, Albert, Arianne Yk, van Schalkwyk, Julie, Reid, Gregor, Hemmingsen, Sean M, Hill, Janet E, Money, Deborah M
Published in Microbiome (04.07.2014)
Published in Microbiome (04.07.2014)
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Journal Article
Periodic breathing in patients with NALCN mutations
Bourque, Danielle K, Dyment, David A, MacLusky, Ian, Kernohan, Kristin D, McMillan, Hugh J
Published in Journal of human genetics (01.10.2018)
Published in Journal of human genetics (01.10.2018)
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Journal Article
The mitochondrial tRNA MT‐TW m.5537_5538insT variant presents with significant intra‐familial clinical variability
Strasser, Lauren, Doja, Asif, Davila, Jorge, Chakraborty, Pranesh, Bourque, Danielle K.
Published in American journal of medical genetics. Part A (01.12.2023)
Published in American journal of medical genetics. Part A (01.12.2023)
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Journal Article
Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome
Aref‐Eshghi, Erfan, Bourque, Danielle K., Kerkhof, Jennifer, Carere, Deanna Alexis, Ainsworth, Peter, Sadikovic, Bekim, Armour, Christine M., Lin, Hanxin
Published in Human mutation (01.10.2019)
Published in Human mutation (01.10.2019)
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Journal Article
The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic
Postma, Julianne K., Harrison, Mary‐Ann, Kutcher, Stephen, Webster, Richard J., Cloutier, Mireille, Bourque, Danielle K., Yu, Andrea C., Carter, Melissa T.
Published in American journal of medical genetics. Part A (20.06.2024)
Published in American journal of medical genetics. Part A (20.06.2024)
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Journal Article
Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1
Bourque, Danielle K., Fonseca, Inara Chacon, Staines, Andrea, Teitelbaum, Ronni, Axford, Michelle M., Jobling, Rebekah, Chiasson, David, Chitayat, David
Published in American journal of medical genetics. Part A (01.07.2019)
Published in American journal of medical genetics. Part A (01.07.2019)
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Journal Article
Neu–Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis
Bourque, Danielle K., Cloutier, Mireille, Kernohan, Kristin D., Bareke, Eric, Grynspan, David, Michaud, Jean, Boycott, Kym M.
Published in American journal of medical genetics. Part A (01.05.2019)
Published in American journal of medical genetics. Part A (01.05.2019)
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Journal Article
Gastroschisis in Ontario, Canada: 2012-2018
Bourque, Danielle K, Meng, Lynn, Dougan, Shelley, Momoli, Franco, Riddell, Catherine, Walker, Mark, Armour, Christine M
Published in Birth defects research (15.08.2021)
Published in Birth defects research (15.08.2021)
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Journal Article
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature
Bourque, Danielle K., Hartley, Taila, Nikkel, Sarah M., Pohl, Daniela, Tétreault, Martine, Kernohan, Kristin D., Dyment, David A.
Published in European journal of medical genetics (01.02.2018)
Published in European journal of medical genetics (01.02.2018)
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Journal Article
Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis
Bourque, Danielle K, Cloutier, Mireille, Kernohan, Kristin D, Bareke, Eric, Grynspan, David, Michaud, Jean, Boycott, Kym M
Published in American journal of medical genetics. Part A (01.05.2019)
Published in American journal of medical genetics. Part A (01.05.2019)
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